Pegoraro E - Search Results

1

Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease.

Bergamin G, Boaretto F, Briani C, Pegoraro E, Cacciavillani M, Martinuzzi A, Muglia M, Vettori A, Vazza G, Mostacciuolo ML. Bergamin G, et al. Among authors: pegoraro e. Neuromolecular Med. 2014 Sep;16(3):540-50. doi: 10.1007/s12017-014-8307-9. Epub 2014 May 13. Neuromolecular Med. 2014. PMID: 24819634

2

Reappraisal of the incidence rate of Duchenne and Becker muscular dystrophies on the basis of molecular diagnosis.

Mostacciuolo ML, Miorin M, Pegoraro E, Fanin M, Schiavon F, Vitiello L, Saad FA, Angelini C, Danieli GA. Mostacciuolo ML, et al. Among authors: pegoraro e. Neuroepidemiology. 1993;12(6):326-30. doi: 10.1159/000110334. Neuroepidemiology. 1993. PMID: 8309507

3

Motor neuron disease in the Padua district of Italy: an epidemiological study.

Briani C, Marcon M, Dam M, Beghi E, Pegoraro E, Angelini C. Briani C, et al. Among authors: pegoraro e. Neuroepidemiology. 1996;15(4):173-9. doi: 10.1159/000109905. Neuroepidemiology. 1996. PMID: 8817499

4

X-inactivation pattern in multiple tissues from two Leber's hereditary optic neuropathy (LHON) patients.

Pegoraro E, Vettori A, Valentino ML, Molon A, Mostacciuolo ML, Howell N, Carelli V. Pegoraro E, et al. Am J Med Genet A. 2003 May 15;119A(1):37-40. doi: 10.1002/ajmg.a.10211. Am J Med Genet A. 2003. PMID: 12707956

5

A novel out-of-frame mutation in the neurofilament light chain gene (NEFL) does not result in Charcot-Marie-Tooth disease type 2E.

Andrigo C, Boito C, Prandini P, Mostacciuolo ML, Siciliano G, Angelini C, Pegoraro E. Andrigo C, et al. Among authors: pegoraro e. Neurogenetics. 2005 Feb;6(1):49-50. doi: 10.1007/s10048-004-0202-3. Epub 2005 Jan 15. Neurogenetics. 2005. PMID: 15654615 No abstract available.

6

Co-segregation of LMNA and PMP22 gene mutations in the same family.

Pegoraro E, Gavassini BF, Benedetti S, Menditto I, Zara G, Padoan R, Mostacciuolo ML, Ferrari M, Angelini C. Pegoraro E, et al. Neuromuscul Disord. 2005 Dec;15(12):858-62. doi: 10.1016/j.nmd.2005.08.008. Epub 2005 Nov 8. Neuromuscul Disord. 2005. PMID: 16288874

7

Epidemiology of ALS in Padova district, Italy, from 1992 to 2005.

Cima V, Logroscino G, D'Ascenzo C, Palmieri A, Volpe M, Briani C, Pegoraro E, Angelini C, Soraru G. Cima V, et al. Among authors: pegoraro e. Eur J Neurol. 2009 Aug;16(8):920-4. doi: 10.1111/j.1468-1331.2009.02623.x. Epub 2009 Mar 31. Eur J Neurol. 2009. PMID: 19473365

8

Pachymeningeal involvement in POEMS syndrome: MRI and histopathological study.

Briani C, Fedrigo M, Manara R, Castellani C, Zambello R, Citton V, Campagnolo M, Dalla Torre C, Lucchetta M, Orvieto E, Rotilio A, Marangoni S, Magi S, Pareyson D, Florio I, Pegoraro E, Thiene G, Battistin L, Adami F, Angelini A. Briani C, et al. Among authors: pegoraro e. J Neurol Neurosurg Psychiatry. 2012 Jan;83(1):33-7. doi: 10.1136/jnnp-2011-300047. Epub 2011 Jun 7. J Neurol Neurosurg Psychiatry. 2012. PMID: 21653206

9

A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy.

Gregianin E, Vazza G, Scaramel E, Boaretto F, Vettori A, Leonardi E, Tosatto SC, Manara R, Pegoraro E, Mostacciuolo ML. Gregianin E, et al. Among authors: pegoraro e. Eur J Neurol. 2013 Nov;20(11):1486-91. doi: 10.1111/ene.12220. Epub 2013 Jun 25. Eur J Neurol. 2013. PMID: 23800155

10

Improving the knowledge of amyotrophic lateral sclerosis genetics: novel SOD1 and FUS variants.

Bertolin C, D'Ascenzo C, Querin G, Gaiani A, Boaretto F, Salvoro C, Vazza G, Angelini C, Cagnin A, Pegoraro E, Sorarù G, Mostacciuolo ML. Bertolin C, et al. Among authors: pegoraro e. Neurobiol Aging. 2014 May;35(5):1212.e7-1212.e10. doi: 10.1016/j.neurobiolaging.2013.10.093. Epub 2013 Oct 29. Neurobiol Aging. 2014. PMID: 24325798

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